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Cockayne syndrome

Epidemiology: rare Pathology: 1) accelerated atherosclerosis 2) cachectic dwarfism 3) transcription-coupled repair deficiency* 4) no apparent increased risk of malignant neoplasms 5) delayed neural development & severe progressive neurologic degeneration * Cells from individuals with Cockayne syndrome are deficient in a subpathway of nucleotide excision repair, transcription-coupled repair. Genetics: - autosomal recessive disorder - associated with defects in ERCC8 (type A) - associated with defects in ERCC6 (type B) Clinical manifestations: 1) normal appearance at birth (type 1) - severe form (type 2) manifests prenatally 2) photosensitivity 3) progeroid appearance: loss of adipose tissue resulting in thin, atrophic, hyperpigmented skin, particularly over the face, combined with premature graying of the hair results in a precociously senile appearance 4) slow growth, cachectic dwarfism 5) pigmentary degeneration of the retina 6) optic atrophy 7) cataracts 8) partial sensorineural deafness 9) mental retardation 10) large & protruberant ears 11) pinched nose 12) carious teeth 13) cool & sometimes cyanotic hands & feet 14) an unsteady gait with tremor 15) limitation of joint mobility Special laboratory: - nerve conduction study - may show decreased nerve conduction velocity Differential diagnosis: - some overlap with certain forms of xeroderma pigmentosum - unlike xeroderma pigmentosum - not associated with increased freckling & other pigmentation abnormalities in the skin - no significant increase in skin cancer

Related

nucleotide excision repair

General

dwarfism (nanism) genetic disease of the eye progeroid syndrome

References

  1. Lehmann AR. Nucleotide excision repair and the link with transcription. Trends Biochem Sci. 1995 Oct;20(10):402-5. Review. PMID: 8533152
  2. Nelson Textbook of Pediatrics, 14th ed., Behrman et al (eds) WB Saunders, Philadelphia, 1992, pg 1650
  3. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038

Databases & Figures

OMIM correlations Human Disorders of DNA Repair